Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

Investigative ophthalmology & visual science - 1 Nov 2006

Humbert Ghyslaine, Delettre Cécile, Sénéchal Audrey, Bazalgette Cécile, Barakat Abdelhamid, Bazalgette Christian, Arnaud Bernard, Lenaers Guy, Hamel Christian P

Abstract excerpt

PURPOSE: Retinitis punctata albescens (RPA) is an infrequently occurring form of autosomal recessive (and rarely dominant) retinal dystrophy featuring early-onset severe night blindness and tiny, dotlike, white deposits in the fundus. RPA is associated mostly with mutations in RLBP1 and occasionally in RHO, RDS, and RDH5. In this study, mutations were sought in RLBP1, which encodes the retinol binding protein...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alu Elements
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Electroretinography

Share to Gene Deletion

Share to Night Blindness

Share to Retinal Degeneration

Share to Visual Fields

Source

Identifiers

PMID: 17065479
DOI: 10.1167/iovs.05-1488

Genes

RLBP1
ABHD2
RDH5
RHO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.PMID 17065479Read ↗

A NOVEL LARGE HOMOZYGOUS DELETION IN THE CELLULAR RETINALDEHYDE-BINDING PROTEIN GENE (RLBP1) IN A PATIENT WITH RETINITIS PUNCTATA ALBESCENS.Semantic proximity Read ↗

A novel homozygous frameshift variant in the cellular retinaldehyde-binding protein 1 (RLBP1) gene causes retinitis punctata albescens.Semantic proximity Read ↗

A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.Semantic proximity Read ↗

A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.Semantic proximity Read ↗

Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.Semantic proximity Read ↗

A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.Semantic proximity Read ↗

Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.Semantic proximity Read ↗

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.Semantic proximity Read ↗

Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1Semantic proximity Read ↗

Mutation spectra in autosomal dominant and recessive retinitis pigmentosa in northern Sweden.Semantic proximity Read ↗

Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene.Semantic proximity Read ↗

Retinitis Punctata Albescens and RLBP1-Allied PhenotypesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.